Ventricular Septal Defect and Mitral Regurgitation Due to Penetrating Cardiac Trauma; a Case Report and Review of Literature.

Penetrating cardiac trauma is a fatal condition and can result in the injury of various parts of the heart. Ventricular Septal Defect (VSD) following these traumas occurs only in 1-5% of cases. The patients' conditions depend on location, size, and concomitant injuries.

Prevalence of electrocardiographic abnormalities among Iranian children and adolescents and associations with blood pressure and obesity: findings from the SHED LIGHT study.

Background: There are few studies for detecting rhythm abnormalities among healthy children and adolescents. The aim of the study was to investigate the prevalence of abnormal electrocardiographic findings in the young Iranian population and its association with blood pressure and obesity.

Methods: A total of 15084 children and adolescents were examined in a randomly selected population of Tehran city, Iran, between October 2017 and December 2018.

Complement-membrane regulatory proteins are absent from the nodes of Ranvier in the peripheral nervous system.

Background: Homozygous CD59-deficient patients manifest with recurrent peripheral neuropathy resembling Guillain-Barré syndrome (GBS), hemolytic anemia and recurrent strokes. Variable mutations in CD59 leading to loss of function have been described and, overall, 17/18 of patients with any mutation presented with recurrent GBS. Here we determine the localization and possible role of membrane-bound complement regulators, including CD59, in the peripheral nervous systems (PNS) of mice and humans.

Comparison of Machine Learning Algorithms Using Manual/Automated Features on 12-Lead Signal Electrocardiogram Classification: A Large Cohort Study on Students Aged Between 6 to 18 Years Old.

Propose: An electrocardiogram (ECG) has been extensively used to detect rhythm disturbances. We sought to determine the accuracy of different machine learning in distinguishing abnormal ECGs from normal ones in children who were examined using a resting 12-Lead ECG machine, and we also compared the manual and automated measurement using the modular ECG Analysis System (MEANS) algorithm of ECG features.

Methods: Altogether, 10745 ECGs were recorded for students aged 6 to 18.

Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy.

Objective: We studied the clinical and molecular features of a family with hypertrophic cardiomyopathy (HCM).

Background: A very heterogeneous disease affecting the heart muscle, HCM is mostly caused by variants in the proteins of sarcomeres. The detection of HCM pathogenic variants can affect the handling of patients and their families.

Long-term outcome of interventional approaches for treatment of coronary artery fistulas: a retrospective cohort study in a great referral center.

Background: Despite the spontaneous regression of many cases of coronary artery fistulas (CAFs), symptomatic patients or cases with severe shunting may require therapeutic interventions. In the present study, we aimed to assess the outcome of treatment of CAFs using interventional approaches.

Methods: This retrospective cohort study was performed on 29 patients with CAFs that were referred to our tertiary center between 2009 and 2019.

Ventricular tachycardia ablation in children.

Introduction: The ablation of ventricular tachycardia, including premature ventricular contractions, is an approved, albeit infrequent procedure in pediatric patients. Data are scarce regarding the outcomes of this procedure. The purpose of this study was to share a high-volume center experience and patient outcomes for catheter ablation of ventricular ectopy and ventricular tachycardia in pediatric population.

Reference percentiles for tri-ponderal mass index and its association with general and abdominal obesity among Iranian children and adolescents: A report from the SHED LIGHT study.

Background: The body mass index (BMI) has some limitations in identifying obesity, particularly among children and adolescents.

Objectives: We sought to determine the reference percentiles of tri-ponderal mass index (TMI) for Iranian population, and its relation to BMI, waist circumference (WC), and waist circumference-to-height ratio (WHtR).

Methods: Baseline characteristics for 14 641 children and adolescents were applied.

Delineating the phenotype of RNU4ATAC-related spliceosomopathy.

Biallelic pathogenic variants in RNU4ATAC cause microcephalic osteodysplastic primordial dwarfism type I (MOPD1), Roifman syndrome (RS) and Lowry-Wood syndrome (LWS). These conditions demonstrate significant phenotypic heterogeneity yet have overlapping features. Although historically described as discrete conditions they appear to represent a phenotypic spectrum with clinical features not always aligning with diagnostic categories.

A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects.

Background: Congenital heart defects (CHDs) are the most common congenital malformations, including structural malformations in the heart and great vessels. CHD complications such as low birth weight, prematurity, pregnancy termination, mortality, and morbidity depend on the type of defect.

Methods: In the present research, genetic analyses via whole-exome sequencing (WES) was performed on 3 unrelated pedigrees with CHDs.

Association Between Obesity and Blood Pressure Among Iranian Children and Adolescents: A Sub-analysis from the SHED LIGHT Study.

Childhood obesity has become a major non-communicable disease worldwide. It is associated with an increased risk of cardiometabolic factors, including diabetes and hypertension (HTN). The purpose of this study was to evaluate the association between obesity and HTN among Iranian children and adolescents.

Prevalence of Structural Heart Diseases Detected by Handheld Echocardiographic Device in School-Age Children in Iran: The SHED LIGHT Study.

Background: Structural heart disease (SHD) has great impacts on healthcare systems, creating further public health concerns. Proper data are scant regarding the magnitude of the affected population by SHD.

Objectives: This study aimed to determine the prevalence of SHD among children and adolescents in an Iranian population.

Impact of donor-to-recipient weight ratio on the hospital outcomes of pediatric heart transplantation.

Background: Identifying the factors that can influence the prognosis and final outcomes of pediatric heart transplantation is important and makes it possible to prevent complications and improve outcomes. Coordination of donor characteristics with the recipient in terms of sex, weight, body mass index (BMI), and body surface area (BSA) is an important factor that can influence the outcome of the transplantation. There is still no consensus regarding the role of discrepancy in anthropometrics between donors and recipients.

Pocket-sized echocardiography for screening structural heart disease: diagnostic accuracy and cost-effectiveness for population-based studies.

Background: The standard transthoracic echocardiography has some limitations in emergent and community-based situations. The emergence of pocket-sized ultrasound has led to influential advancements.

Methods: In this prospective study, in the hospital-based phase, children with suspected structural heart diseases were enrolled.

Continuous Butanol Fermentation of Dilute Acid-Pretreated De-oiled Rice Bran by Clostridium acetobutylicum YM1.

Continuous fermentation of dilute acid-pretreated de-oiled rice bran (DRB) to butanol by the Clostridium acetobutylicum YM1 strain was investigated. Pretreatment of DRB with dilute sulfuric acid (1%) resulted in the production of 42.12 g/L total sugars, including 25.

Molecular pathogenesis of human CD59 deficiency.

Objective: To characterize all 4 mutations described for CD59 congenital deficiency.

Methods: The 4 mutations, p.Cys64Tyr, p.

Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency.

Objectives: Loss of the complement inhibitor CD55 leads to a syndrome of early-onset protein-losing enteropathy (PLE), associated with intestinal lymphangiectasia and susceptibility to large-vein thrombosis. The in vitro and short-term treatment benefits of eculizumab (C5-inhibitor) therapy for CD55-deficiency have been previously demonstrated. Here we present the 18-months treatment outcomes for 3 CD55-deficiency patients with sustained therapeutic response.

Role of transcription complexes in the formation of the basal methylation pattern in early development.

Following erasure in the blastocyst, the entire genome undergoes de novo methylation at the time of implantation, with CpG islands being protected from this process. This bimodal pattern is then preserved throughout development and the lifetime of the organism. Using mouse embryonic stem cells as a model system, we demonstrate that the binding of an RNA polymerase complex on DNA before de novo methylation is predictive of it being protected from this modification, and tethering experiments demonstrate that the presence of this complex is, in fact, sufficient to prevent methylation at these sites.

Prothrombotic mechanisms in patients with congenital p.Cys89Tyr mutation in CD59.

Background: Thrombosis is the prognostic factor with the greatest effect on survival in patients with paroxysmal nocturnal hemoglobinuria (PNH), who lack dozens of membrane surface proteins. We recently described a primary homozygous Cys89Tyr congenital nonfunctioning CD59 in humans with clinical manifestation in infancy, associated with chronic hemolysis, recurrent strokes, and relapsing peripheral demyelinating neuropathy. Here we investigated hypercoagulability mechanisms characterizing the syndrome.

Age-dependent ventricular arrhythmias risk, structural and molecular remodeling in systemic arterial hypertension.

Introduction: The left ventricular hypertrophy (LVH)-ventricular arrhythmias relationship associated with arterial hypertension and aging remains controversial. We aimed to assess the age-dependency of ventricular arrhythmias in spontaneously hypertensive rats (SHRs) and the corresponding ventricular structural and molecular remodeling.

Materials And Methods: Ventricular arrhythmias were quantified using 24-h radiotelemetry ECG monitoring in eight SHRs and four Wistar-Kyoto (WKY) rats at 14 (young), 24 (adult), and 48 (aging) weeks of age.

Demyelination, strokes, and eculizumab: Lessons from the congenital CD59 gene mutations.

Neurological symptoms of patients with p.Cys89Tyr mutation in the CD59 gene include recurrent peripheral neuropathy resembling Guillain-Barré syndrome, characterized by sensory-motor demyelinating neuropathy with secondary axonal damage and moderate enhancement of the nerve roots on spine MRI, together with recurrent strokes and retinal involvement. Three additional mutations in CD59, leading to loss of function, have been described, and overall, 12/12 (100%) of patients with any mutation presented with neurological symptoms; 11/12 (92%) patients presented with recurrent peripheral neuropathy, 6/12 (50%) with recurrent strokes, and 1/12 (8%) with retinal involvement.

Epigenetic mechanism of FMR1 inactivation in Fragile X syndrome.

Fragile X syndrome is the most frequent cause of inherited intellectual disability. The primary molecular defect in this disease is the expansion of a CGG repeat in the 5' region of the fragile X mental retardation1 (FMR1) gene, leading to de novo methylation of the promoter and inactivation of this otherwise normal gene, but little is known about how these epigenetic changes occur during development. In order to gain insight into the nature of this process, we have used cell fusion technology to recapitulate the events that occur during early embryogenesis.